Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10

J Neurol Neurosurg Psychiatry. 2015 Jun;86(6):702-4. doi: 10.1136/jnnp-2014-308625. Epub 2014 Oct 28.
No abstract available

Keywords: GENETICS; HEREDIT SPASTIC PARAPLEGIA; NEUROGENETICS.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Cognition Disorders / etiology
  • Disability Evaluation
  • Disease Progression
  • Female
  • Humans
  • Kinesins / genetics
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Phenotype
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / physiopathology*
  • Young Adult

Substances

  • KIF5A protein, human
  • Kinesins